A hard, lonely road

IN THE not-too-distant past, it was common for parents to pray for boys to carry on the family line.

Nowadays, most parents just hope that their newborn child will be healthy, with all their fingers, toes and everything else in the right place.

And rightfully so, because there can be no harder blow than when a child is born with a defect or abnormality.

But it is far worse when the baby turns out to have a rare disease, simply because of the difficulty in obtaining a diagnosis and treatment, as well as the general lack of knowledge about such conditions.

While Wei Ling was always a sickly child from birth, it wasn’t until her first birthday that it dawned on her parents that there was something seriously wrong with her.

Says Chia: “At one year of age, Wei Ling was losing out on all the gross motor development skills.

“Normally, at one, kids can stand (with support), but she couldn’t stand or even crawl. And she fell sick very easily, and it would drag on for a long time.”

In addition, she had very poor weight gain, despite a good appetite, and was prone to choking on food easily.

Around that time, she was also suffering from a respiratory infection. As it had dragged on for almost two months without improvement, despite oral antibiotics, she was admitted to the Seremban General Hospital.

Upon taking a chest X-ray, it was discovered that she had an enlarged heart and liver.

When scolded by the doctor as to why they had not brought Wei Ling in earlier considering her slow development, Chia and Lee told her that it was because her sister Yen Ling had also shown a similar pattern growing up – easily tired, falling down often, with a poor appetite.

However, as her symptoms were less severe than Wei Ling’s, the parents went along with the doctors’ advice to take multivitamins and go for occupational therapy to strengthen her muscles and motor skills.

This was enough to set off alarm bells, and the anxious parents were told to bring in both Yen Ling and Sze Hong for a check-up.

And when both children underwent an echocardiogram to assess their hearts, Chia remembers her son’s heart pumping strong and fast, but Yen Ling’s heart was visibly weaker.

“At the end of the day, the doctor was very sure it was a genetic disease as both my girls had it,” she says.

The girls were first referred to the National Heart Institute (IJN) for their heart condition. But with the only treatment option being a heart transplant — and even then, the new heart would only deteriorate again without fixing the underlying problem — the cardiologist felt that the girls needed to get to the root of their problem, and referred them to the genetics unit at the Kuala Lumpur General Hospital (KLGH).

Chia says: “When the geneticist saw my daughters, they said they could only think of two conditions: Pompe disease and mitochondrial diseases.”

To confirm the diagnosis, Yen Ling and Wei Ling were admitted to KLGH in June 2005 for a full battery of biopsies, and blood and urine tests. The final blood sample had to be sent all the way to Australia for the confirmatory test.

“After two or three months, the doctor called us to confirm that it was Pompe disease (see Fact Box), and that it had a treatment, but was very expensive,” says Chia.

The enzyme replacement treatment (ERT), which Pompe patients need for the rest of their lives, costs about RM1mil a year.

Due to denial and shock, the Lees had not told anyone about their troubles, but learning about the treatment prompted them to start opening up and sharing their burden with family and friends.

Although some of her in-laws blamed Chia for the girls’ condition, Lee staunchly stood up for her.

But the accusations, along with the new-found knowledge that most untreated infantile-onset Pompe patients die before the age of one or two, combined to make that time “the darkest days of my life”, recalls Chia.

However, it was also then that they discovered the kindness of both strangers and friends in giving them encouragement, prayers and support.

At the same time, they were both trying desperately to find funding for their daughters’ treatment.

Fortunately, with the help of their geneticist, they managed to get into the expanded access programme by Genzyme — the company that produces alglucosidase alfa, the enzyme Pompe patients lack — which provided them with free ERT for four months.

They also managed to secure government funding through the Health Ministry to continue their daughters’ treatment after that.

The treatment was “very much like a miracle drug”, says Chia. Lee adds: “You could really see Wei Ling’s improvement. After the first treatment, she could pull herself up to stand, the second one, she was pulling herself along the sofa, when before this she could only bottom-shuffle.”

While the damage done before the treatment cannot be reversed, especially for Yen Ling, the girls are now able to move about and attend school quite normally.

Their parents’ main worry is the continuation of the girls’ treatment funds. As such, Lee and Chia have grouped together with other families who have children with lysosomal storage disorders to form the Malaysian Lysosomal Diseases Association.

“We formed the association to support one another, and raise awareness about these diseases. We hope that it will also give us a bigger voice to be heard by the government, so that more can be done for those who suffer from these conditions,” says Lee.

Hoping for support

It started during her pregnancy. Lim Wee Jean, 33, felt that there was something wrong with her second child, even in the womb.

“Kaye-Leigh moved very little, and later on in my pregnancy, I suffered from polyhydramnios (an excess of amniotic fluid),” says the stay-at-home mum.

At 38 weeks of pregnancy, Lim had to be induced to go into labour as Kaye-Leigh’s weight was remaining stagnant in the womb, due to the excessive fluid.

“When she was born, I still thought that she was normal, but after they took her away to check her, they came back and said that something was wrong with her,” she recalls.

Kaye-Leigh was very quiet and not moving around much, as well as displaying general hypotonia (low muscle tone).

She had to stay in the hospital for six more days after her birth, undergoing a series of chromosomal tests to determine her condition.

However, the specialists at the private hospital were unable to determine what was wrong with Kaye-Leigh.

They were then referred to the University Malaya Medical Centre, where clinical geneticists Dr Chew Hui Bien and Prof Dr Thong Meow Keong suspected she had Prader-Willi Syndrome (PWS; see Fact Box).

Her blood was eventually taken for the FISH (fluorescent in situ hybridisation) test, which can identify PWS caused by deletions in the patient’s chromosome 15.

In between waiting for confirmation of Kaye-Leigh’s condition, the family – including father Francis Tan, 34, and elder sister, Kate-Lynn – had to deal with her being admitted to the ICU for 10 days for a bout of aspiration pneumonia, as well as her feeding difficulties.

“Kaye-Leigh had a very poor sucking reflex; she had to be fed through a nasogastric tube for four months. She also slept a lot and didn’t have much movement,” shares Lim.

Although Kaye-Leigh is currently 15 months old, her development is only comparable to that of a six-month-old baby.

“She could only lift her head about two months ago, and recently, she has learnt to sit with support.

“Previously, she did not move much, and wasn’t very responsive. Now, she smiles a lot, and is quite responsive, especially to her sister,” says Lim.

She adds that three-year-old Kate-Lynn is really protective over her sister and is her greatest source of stimulation.

Lim admits that it wasn’t easy accepting Kaye-Leigh’s condition at first. “I cried for two whole weeks after she was born, asking why my baby had this condition – I was very depressed.”

Although both their families were shocked at first, they soon rallied around the Tans.

“We were lucky. Both our families accepted and loved her. They give us the most support and encouragement. We never lost hope because of our family and friends,” says Lim.

In fact, it was her mother who gave her the crucial talk that turned her depression around into acceptance. “She said that there was a reason God chose me to be Kaye-Leigh’s mother,” shares Lim.

However, it has not been easy going out with Kaye-Leigh, as Malaysians are naturally curious about babies and not shy about asking personal questions about her development.

The Tans sometimes resort to lying about her age to avoid questions, and Lim wishes Malaysians were not so insensitive and curious.

There is no cure or treatment for PWS, although human growth hormone therapy has been shown to be beneficial in those who have the condition.

“Every night before I go to bed, I think about her future,” says Lim. “In Malaysia, there are no specific support groups for Prader-Willi Syndrome because it is so rare.”

While Lim can find information easily enough on the Internet, it is mostly from foreign sources.

What she wants now is to form a support group with other local families who have PWS children.

“If I can go to a support group and talk, I would feel less alone. And I really want to meet and learn from the experiences of other Prader-Willi Syndrome families on how to improve Kaye-Leigh’s quality of life.”